Incidental Mutation 'IGL02421:Cenpb'
ID292665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cenpb
Ensembl Gene ENSMUSG00000068267
Gene Namecentromere protein B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock #IGL02421
Quality Score
Status
Chromosome2
Chromosomal Location131175182-131180067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 131179681 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 66 (R66C)
Ref Sequence ENSEMBL: ENSMUSP00000086938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028801] [ENSMUST00000089510] [ENSMUST00000110218]
Predicted Effect probably benign
Transcript: ENSMUST00000028801
SMART Domains Protein: ENSMUSP00000028801
Gene: ENSMUSG00000027329

DomainStartEndE-ValueType
Pfam:CH_2 13 109 9.3e-36 PFAM
Pfam:CAMSAP_CH 14 96 7.9e-24 PFAM
coiled coil region 182 234 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000089510
AA Change: R66C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086938
Gene: ENSMUSG00000068267
AA Change: R66C

DomainStartEndE-ValueType
Pfam:CENP-B_N 2 56 1.6e-26 PFAM
CENPB 71 136 7.05e-23 SMART
low complexity region 140 158 N/A INTRINSIC
Pfam:DDE_1 222 384 4.9e-44 PFAM
coiled coil region 402 439 N/A INTRINSIC
Pfam:CENP-B_dimeris 499 598 5.8e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110218
SMART Domains Protein: ENSMUSP00000105847
Gene: ENSMUSG00000027329

DomainStartEndE-ValueType
Pfam:CH 10 103 1.2e-7 PFAM
Pfam:DUF1042 13 164 5.7e-58 PFAM
Pfam:CAMSAP_CH 14 96 9e-23 PFAM
coiled coil region 182 234 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display decreased body weight, small testis, oligospermia, and an age- and background-dependent reduction in female reproductive competence associated with abnormalities in uterus morphology, metral environment, gestational length, and parturition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 155,050,752 F117S probably damaging Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acacb A G 5: 114,223,878 T1394A probably benign Het
Adam19 A G 11: 46,137,553 N671S probably damaging Het
Akap13 A T 7: 75,717,806 N1815I possibly damaging Het
Aloxe3 A G 11: 69,130,046 D199G possibly damaging Het
Ap1g2 G A 14: 55,102,402 A440V probably damaging Het
Bmt2 G T 6: 13,628,842 Q281K probably damaging Het
Celsr3 T C 9: 108,840,463 F2243L probably damaging Het
Chl1 A T 6: 103,717,580 H1121L probably damaging Het
Cpb1 T C 3: 20,251,984 Y344C probably damaging Het
Cspg5 T A 9: 110,247,392 probably benign Het
Dnah11 T C 12: 118,186,902 N374D probably damaging Het
Dnah3 A G 7: 119,950,992 V3368A possibly damaging Het
Eml4 T C 17: 83,477,892 S829P probably benign Het
Gm14548 T C 7: 3,896,995 N203D possibly damaging Het
Got2-ps1 T C 5: 138,364,549 noncoding transcript Het
Hal T C 10: 93,503,473 C475R probably damaging Het
Mapkbp1 C T 2: 120,019,655 P806S possibly damaging Het
Mmrn1 A T 6: 60,944,822 T88S probably benign Het
Napsa A G 7: 44,585,055 H237R probably damaging Het
Olfr1215 T C 2: 89,001,344 probably null Het
Olfr412 T C 11: 74,365,191 I174T probably damaging Het
Olfr568 T C 7: 102,877,759 I213T probably damaging Het
Olfr661 A G 7: 104,688,533 N173D probably benign Het
Opn5 C T 17: 42,596,555 probably benign Het
Polb C T 8: 22,640,373 G179D probably damaging Het
Primpol G T 8: 46,607,795 probably benign Het
Prom2 T A 2: 127,531,882 probably null Het
Psmb10 A G 8: 105,937,492 probably null Het
Ranbp2 T G 10: 58,480,554 S2365R probably damaging Het
Sgce G A 6: 4,694,187 probably benign Het
Slc25a34 A G 4: 141,621,442 V237A probably benign Het
Slc39a2 A T 14: 51,893,872 T25S probably benign Het
Smarca4 T C 9: 21,639,239 C423R probably damaging Het
Stt3b G A 9: 115,251,852 probably benign Het
Tbl1xr1 A T 3: 22,203,163 I397F probably damaging Het
Tie1 A G 4: 118,486,394 V117A probably damaging Het
Tmc3 T C 7: 83,622,744 F1035L probably benign Het
Trhde T A 10: 114,412,461 K944N probably damaging Het
Vmn1r54 G A 6: 90,269,151 A16T probably benign Het
Washc4 T A 10: 83,579,550 N801K probably damaging Het
Xylt2 A G 11: 94,667,762 Y523H possibly damaging Het
Znfx1 T C 2: 167,060,080 R5G probably damaging Het
Other mutations in Cenpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0183:Cenpb UTSW 2 131178453 unclassified probably benign
R1378:Cenpb UTSW 2 131178310 unclassified probably benign
R1934:Cenpb UTSW 2 131179264 missense probably benign
R2086:Cenpb UTSW 2 131178597 unclassified probably benign
R2132:Cenpb UTSW 2 131179306 missense probably damaging 1.00
R4776:Cenpb UTSW 2 131178183 unclassified probably benign
R5056:Cenpb UTSW 2 131178171 unclassified probably benign
R5120:Cenpb UTSW 2 131179818 missense probably benign 0.00
R5617:Cenpb UTSW 2 131179014 missense probably damaging 0.99
R6297:Cenpb UTSW 2 131178369 unclassified probably benign
R6467:Cenpb UTSW 2 131179557 missense probably damaging 1.00
R6673:Cenpb UTSW 2 131179245 missense probably damaging 0.98
R6916:Cenpb UTSW 2 131179624 missense probably benign 0.04
R7102:Cenpb UTSW 2 131178879 missense probably damaging 0.99
R7888:Cenpb UTSW 2 131179842 missense probably damaging 0.99
R7971:Cenpb UTSW 2 131179842 missense probably damaging 0.99
Posted On2015-04-16